Incidental Mutation 'R2143:Nek1'
ID 236505
Institutional Source Beutler Lab
Gene Symbol Nek1
Ensembl Gene ENSMUSG00000031644
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 1
Synonyms kat, D8Ertd790e, kidney, anemia and testis
MMRRC Submission 040146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2143 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61481730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 215 (I215K)
Ref Sequence ENSEMBL: ENSMUSP00000147809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672]
AlphaFold P51954
Predicted Effect probably damaging
Transcript: ENSMUST00000034065
AA Change: I215K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: I215K

DomainStartEndE-ValueType
S_TKc 4 258 4.23e-95 SMART
Blast:S_TKc 266 303 3e-7 BLAST
low complexity region 321 337 N/A INTRINSIC
coiled coil region 372 402 N/A INTRINSIC
coiled coil region 556 592 N/A INTRINSIC
coiled coil region 647 685 N/A INTRINSIC
low complexity region 767 780 N/A INTRINSIC
low complexity region 1130 1141 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120689
AA Change: I215K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: I215K

DomainStartEndE-ValueType
S_TKc 4 258 4.23e-95 SMART
Blast:S_TKc 266 303 3e-7 BLAST
low complexity region 321 337 N/A INTRINSIC
coiled coil region 372 402 N/A INTRINSIC
coiled coil region 487 510 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
coiled coil region 584 620 N/A INTRINSIC
coiled coil region 675 713 N/A INTRINSIC
low complexity region 795 808 N/A INTRINSIC
low complexity region 1158 1169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155664
Predicted Effect probably damaging
Transcript: ENSMUST00000211256
AA Change: I215K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211672
AA Change: I215K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210310
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(1) Gene trapped(1) Spontaneous(2)

Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G C 16: 88,556,053 (GRCm39) S89T probably benign Het
4930522L14Rik C G 5: 109,884,616 (GRCm39) C414S probably damaging Het
4930553M12Rik G A 4: 88,786,411 (GRCm39) T69I unknown Het
4930553M12Rik T A 4: 88,786,412 (GRCm39) T69S unknown Het
Apobr G A 7: 126,186,288 (GRCm39) E600K probably benign Het
Armc8 C A 9: 99,387,361 (GRCm39) R419L probably damaging Het
Ash1l T A 3: 88,892,726 (GRCm39) M1535K probably benign Het
Atf7ip2 A G 16: 10,058,509 (GRCm39) E316G probably null Het
Atp2a1 G A 7: 126,047,897 (GRCm39) R638* probably null Het
Atp8b4 A T 2: 126,216,430 (GRCm39) I672N probably damaging Het
Atrn T C 2: 130,799,916 (GRCm39) V431A probably benign Het
Babam1 T C 8: 71,851,084 (GRCm39) S116P probably damaging Het
Ccdc142 T C 6: 83,079,203 (GRCm39) L180P probably damaging Het
Cd52 T C 4: 133,821,048 (GRCm39) probably benign Het
Cdk17 T C 10: 93,053,881 (GRCm39) L125P probably damaging Het
Ckap5 A G 2: 91,396,090 (GRCm39) D531G probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Crispld1 C T 1: 17,819,860 (GRCm39) T286I probably benign Het
Crtap T C 9: 114,209,036 (GRCm39) Y336C probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dsc3 A G 18: 20,113,743 (GRCm39) F393S possibly damaging Het
Dsg2 T A 18: 20,712,218 (GRCm39) I118N probably damaging Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Elmo3 T C 8: 106,035,305 (GRCm39) V450A probably damaging Het
Eml5 A C 12: 98,776,864 (GRCm39) F1417C probably damaging Het
Enam T A 5: 88,640,779 (GRCm39) M147K probably benign Het
Entpd1 T C 19: 40,725,227 (GRCm39) Y409H probably damaging Het
Extl1 C A 4: 134,098,355 (GRCm39) E225D probably benign Het
Fbn2 A G 18: 58,186,065 (GRCm39) V1761A possibly damaging Het
Fsip2 A T 2: 82,820,615 (GRCm39) L5449F possibly damaging Het
Gabra5 G A 7: 57,138,763 (GRCm39) T95I probably damaging Het
Gal3st2c C T 1: 93,937,173 (GRCm39) Q373* probably null Het
Gbp5 A C 3: 142,209,593 (GRCm39) T180P probably damaging Het
Glb1 T C 9: 114,266,892 (GRCm39) L212P probably damaging Het
Gm11596 A T 11: 99,683,789 (GRCm39) C110* probably null Het
Gpat2 T C 2: 127,275,682 (GRCm39) F487L probably damaging Het
Hsph1 A T 5: 149,554,951 (GRCm39) H110Q probably damaging Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Ildr2 T C 1: 166,096,895 (GRCm39) V38A probably damaging Het
Inpp4a G T 1: 37,426,827 (GRCm39) C326F probably damaging Het
Irak2 T A 6: 113,649,788 (GRCm39) V141D probably benign Het
Jade1 G A 3: 41,559,143 (GRCm39) R408Q probably benign Het
Jmjd7 C A 2: 119,860,601 (GRCm39) probably null Het
Kdm7a C T 6: 39,145,884 (GRCm39) V348I possibly damaging Het
Kif20a A G 18: 34,758,657 (GRCm39) D42G possibly damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Krt5 A G 15: 101,620,794 (GRCm39) I151T probably damaging Het
Krtap1-5 T C 11: 99,471,644 (GRCm39) I50V probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc71 C T 3: 87,652,828 (GRCm39) W148* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1a T A 2: 121,132,426 (GRCm39) S843T probably damaging Het
Map1s T A 8: 71,363,608 (GRCm39) D48E probably damaging Het
Mast4 A G 13: 102,871,983 (GRCm39) F2462L possibly damaging Het
Mettl21e T A 1: 44,249,398 (GRCm39) Y86F probably benign Het
Myh6 A T 14: 55,190,411 (GRCm39) D1035E probably damaging Het
Naip6 C T 13: 100,436,367 (GRCm39) D719N probably damaging Het
Nat8f2 T G 6: 85,845,239 (GRCm39) H41P probably benign Het
Ncam1 T A 9: 49,454,319 (GRCm39) Q597L possibly damaging Het
Nol11 A T 11: 107,071,881 (GRCm39) S237R probably benign Het
Npr2 T C 4: 43,648,166 (GRCm39) F870S probably damaging Het
Nsd1 T C 13: 55,408,210 (GRCm39) Y1285H probably damaging Het
Nup93 C T 8: 95,023,108 (GRCm39) Q229* probably null Het
Or4a15 C T 2: 89,193,447 (GRCm39) E109K probably damaging Het
Or7g12 G A 9: 18,900,099 (GRCm39) A272T probably benign Het
Pappa T A 4: 65,099,186 (GRCm39) Y568* probably null Het
Parva A G 7: 112,159,274 (GRCm39) D180G possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pax1 T A 2: 147,207,802 (GRCm39) C225S probably damaging Het
Pde4dip T A 3: 97,795,835 (GRCm39) E51V possibly damaging Het
Pde6c A T 19: 38,150,777 (GRCm39) H562L probably damaging Het
Pet100 T G 8: 3,672,355 (GRCm39) L14R probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Polr2d T A 18: 31,929,132 (GRCm39) L127Q probably damaging Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptpn6 T A 6: 124,701,947 (GRCm39) H406L probably benign Het
Ric1 A T 19: 29,510,652 (GRCm39) S78C probably damaging Het
Ric1 G A 19: 29,510,653 (GRCm39) S78N probably damaging Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Senp7 A G 16: 55,990,169 (GRCm39) H639R probably benign Het
Sgtb A T 13: 104,260,767 (GRCm39) D72V probably damaging Het
Slc44a5 T C 3: 153,964,086 (GRCm39) M484T probably benign Het
Slc5a1 A G 5: 33,318,140 (GRCm39) K598E probably benign Het
Slit3 T A 11: 35,503,088 (GRCm39) probably null Het
Smc1b T C 15: 85,008,003 (GRCm39) H258R probably benign Het
Smu1 T C 4: 40,744,073 (GRCm39) D318G probably damaging Het
Sned1 T A 1: 93,199,406 (GRCm39) F495L probably damaging Het
Svs3a C A 2: 164,131,804 (GRCm39) S124Y probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tdpoz1 T A 3: 93,578,143 (GRCm39) R214* probably null Het
Tm2d3 A G 7: 65,344,987 (GRCm39) D54G probably damaging Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Triml2 T A 8: 43,646,548 (GRCm39) W346R probably damaging Het
Trp53bp1 A T 2: 121,046,545 (GRCm39) V1085D probably benign Het
Trpv2 T C 11: 62,483,612 (GRCm39) V483A probably benign Het
Ugp2 G T 11: 21,278,949 (GRCm39) N412K probably benign Het
Upf1 T C 8: 70,792,004 (GRCm39) D418G probably null Het
Vmn2r77 C A 7: 86,461,152 (GRCm39) P826Q probably damaging Het
Vrtn T C 12: 84,696,936 (GRCm39) M562T probably benign Het
Wdr55 A G 18: 36,895,419 (GRCm39) N132S possibly damaging Het
Wipf2 A T 11: 98,787,040 (GRCm39) R356S possibly damaging Het
Zdhhc6 T C 19: 55,287,228 (GRCm39) K411E probably benign Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp280d A G 9: 72,220,011 (GRCm39) N237S probably damaging Het
Zfp445 T G 9: 122,682,547 (GRCm39) S465R possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G probably damaging Het
Other mutations in Nek1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Nek1 APN 8 61,496,318 (GRCm39) missense probably benign 0.00
IGL01075:Nek1 APN 8 61,577,166 (GRCm39) missense possibly damaging 0.64
IGL01122:Nek1 APN 8 61,574,000 (GRCm39) missense possibly damaging 0.80
IGL01151:Nek1 APN 8 61,473,111 (GRCm39) missense probably damaging 1.00
IGL01286:Nek1 APN 8 61,577,250 (GRCm39) missense possibly damaging 0.64
IGL01377:Nek1 APN 8 61,542,490 (GRCm39) missense probably benign
IGL01485:Nek1 APN 8 61,502,860 (GRCm39) missense probably benign 0.02
IGL01688:Nek1 APN 8 61,558,631 (GRCm39) nonsense probably null
IGL01806:Nek1 APN 8 61,577,246 (GRCm39) missense possibly damaging 0.82
IGL02006:Nek1 APN 8 61,557,226 (GRCm39) missense probably benign 0.20
IGL02304:Nek1 APN 8 61,465,201 (GRCm39) missense probably damaging 1.00
IGL02659:Nek1 APN 8 61,542,514 (GRCm39) missense probably benign 0.16
IGL02662:Nek1 APN 8 61,557,218 (GRCm39) missense probably benign 0.00
IGL02801:Nek1 APN 8 61,574,095 (GRCm39) critical splice donor site probably null
IGL02806:Nek1 APN 8 61,497,120 (GRCm39) missense probably benign 0.15
IGL03037:Nek1 APN 8 61,487,086 (GRCm39) missense probably benign 0.16
IGL03252:Nek1 APN 8 61,525,364 (GRCm39) nonsense probably null
P0014:Nek1 UTSW 8 61,524,781 (GRCm39) splice site probably benign
R0019:Nek1 UTSW 8 61,542,768 (GRCm39) missense probably benign 0.01
R0403:Nek1 UTSW 8 61,559,889 (GRCm39) missense probably damaging 0.99
R0464:Nek1 UTSW 8 61,525,307 (GRCm39) splice site probably benign
R0726:Nek1 UTSW 8 61,542,626 (GRCm39) missense probably damaging 1.00
R0761:Nek1 UTSW 8 61,542,489 (GRCm39) missense probably benign
R0827:Nek1 UTSW 8 61,558,682 (GRCm39) splice site probably benign
R0972:Nek1 UTSW 8 61,542,465 (GRCm39) splice site probably null
R1268:Nek1 UTSW 8 61,475,298 (GRCm39) missense probably damaging 1.00
R1343:Nek1 UTSW 8 61,481,709 (GRCm39) missense probably damaging 1.00
R1415:Nek1 UTSW 8 61,542,720 (GRCm39) missense probably benign 0.00
R1466:Nek1 UTSW 8 61,578,170 (GRCm39) splice site probably benign
R1480:Nek1 UTSW 8 61,577,360 (GRCm39) splice site probably null
R1526:Nek1 UTSW 8 61,502,975 (GRCm39) missense probably benign 0.26
R1552:Nek1 UTSW 8 61,459,771 (GRCm39) missense probably damaging 0.99
R1606:Nek1 UTSW 8 61,577,310 (GRCm39) missense possibly damaging 0.82
R1650:Nek1 UTSW 8 61,489,110 (GRCm39) missense probably benign 0.00
R1757:Nek1 UTSW 8 61,542,847 (GRCm39) splice site probably null
R1808:Nek1 UTSW 8 61,469,264 (GRCm39) missense probably damaging 1.00
R1966:Nek1 UTSW 8 61,469,330 (GRCm39) missense probably damaging 1.00
R2067:Nek1 UTSW 8 61,460,196 (GRCm39) missense probably damaging 1.00
R2111:Nek1 UTSW 8 61,577,360 (GRCm39) splice site probably null
R2113:Nek1 UTSW 8 61,469,327 (GRCm39) missense probably damaging 1.00
R2255:Nek1 UTSW 8 61,542,807 (GRCm39) missense probably damaging 1.00
R2422:Nek1 UTSW 8 61,472,935 (GRCm39) missense probably damaging 1.00
R3848:Nek1 UTSW 8 61,525,349 (GRCm39) missense probably damaging 0.99
R3849:Nek1 UTSW 8 61,525,349 (GRCm39) missense probably damaging 0.99
R3850:Nek1 UTSW 8 61,525,349 (GRCm39) missense probably damaging 0.99
R4418:Nek1 UTSW 8 61,559,898 (GRCm39) missense probably damaging 1.00
R4526:Nek1 UTSW 8 61,559,978 (GRCm39) missense probably damaging 0.99
R4533:Nek1 UTSW 8 61,460,247 (GRCm39) missense possibly damaging 0.95
R4544:Nek1 UTSW 8 61,469,338 (GRCm39) nonsense probably null
R4677:Nek1 UTSW 8 61,481,840 (GRCm39) missense probably damaging 0.99
R4739:Nek1 UTSW 8 61,551,545 (GRCm39) missense probably benign 0.32
R5068:Nek1 UTSW 8 61,469,330 (GRCm39) missense probably damaging 1.00
R5421:Nek1 UTSW 8 61,459,711 (GRCm39) missense possibly damaging 0.81
R5516:Nek1 UTSW 8 61,542,523 (GRCm39) missense probably benign 0.03
R5855:Nek1 UTSW 8 61,469,306 (GRCm39) missense probably damaging 1.00
R6125:Nek1 UTSW 8 61,481,735 (GRCm39) missense probably damaging 1.00
R6267:Nek1 UTSW 8 61,525,343 (GRCm39) nonsense probably null
R6292:Nek1 UTSW 8 61,507,770 (GRCm39) splice site probably null
R6296:Nek1 UTSW 8 61,525,343 (GRCm39) nonsense probably null
R6458:Nek1 UTSW 8 61,553,046 (GRCm39) missense probably benign 0.00
R6568:Nek1 UTSW 8 61,559,855 (GRCm39) missense probably benign 0.00
R6629:Nek1 UTSW 8 61,507,367 (GRCm39) splice site probably null
R6867:Nek1 UTSW 8 61,525,364 (GRCm39) missense possibly damaging 0.81
R7122:Nek1 UTSW 8 61,559,829 (GRCm39) missense probably benign 0.00
R7193:Nek1 UTSW 8 61,526,612 (GRCm39) missense probably damaging 0.99
R7272:Nek1 UTSW 8 61,578,120 (GRCm39) missense probably benign 0.34
R7356:Nek1 UTSW 8 61,573,994 (GRCm39) missense probably benign 0.02
R7368:Nek1 UTSW 8 61,542,741 (GRCm39) missense probably benign 0.24
R7478:Nek1 UTSW 8 61,583,179 (GRCm39) missense probably benign 0.03
R7479:Nek1 UTSW 8 61,583,179 (GRCm39) missense probably benign 0.03
R7512:Nek1 UTSW 8 61,583,179 (GRCm39) missense probably benign 0.03
R7715:Nek1 UTSW 8 61,459,794 (GRCm39) missense probably damaging 0.98
R7984:Nek1 UTSW 8 61,574,087 (GRCm39) nonsense probably null
R8271:Nek1 UTSW 8 61,558,646 (GRCm39) missense probably benign 0.04
R8431:Nek1 UTSW 8 61,487,066 (GRCm39) missense possibly damaging 0.95
R9076:Nek1 UTSW 8 61,481,768 (GRCm39) missense probably damaging 0.96
R9149:Nek1 UTSW 8 61,574,055 (GRCm39) missense probably damaging 1.00
R9250:Nek1 UTSW 8 61,465,151 (GRCm39) missense probably damaging 0.99
R9429:Nek1 UTSW 8 61,559,892 (GRCm39) missense probably benign
R9563:Nek1 UTSW 8 61,577,157 (GRCm39) missense probably benign 0.36
R9616:Nek1 UTSW 8 61,473,107 (GRCm39) missense probably damaging 0.99
RF023:Nek1 UTSW 8 61,525,779 (GRCm39) splice site probably null
X0028:Nek1 UTSW 8 61,496,292 (GRCm39) missense probably benign 0.19
X0066:Nek1 UTSW 8 61,578,162 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACACCTTACCTCTTGGCATG -3'
(R):5'- TGTGACACATACCTGAGGGG -3'

Sequencing Primer
(F):5'- ACCTCTTGGCATGTTGCATAAACAC -3'
(R):5'- CATACCTGAGGGGAGAGAAACTTTTC -3'
Posted On 2014-10-01